Scientists have discovered the genetic cause of a rare form of allergy

2016-02-06

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The research team from the National Institutes of Health (National Institutes of Health) found out what has the genetic cause of a rare form of allergy disease — vibratory urticaria. Its symptoms include redness and rashes that develop when mechanical vibration — for example when working on the machine, after the applause, or just after a trip on the bus on rough roads.

Besides genetic cause of a rare form of allergy symptoms in people suffering from this form of allergy, often had headaches, flushing, a metallic taste in the mouth and blurred vision. Typically, these events took place quickly, but in some patients, they observed several times during the day.

What are scientists discovered in the genetic cause of a rare form of allergy?

Many people who think they are allergic to penicillin can no health risks to take this medication. So say researchers from the Medical Center of Southwest University of Texas (University of Texas Southwestern Medical Center). They found that the majority of people, this diagnosis were a mistake without carrying out all necessary tests.

Anthony S. Fauci and his colleagues examined the members of the three families who met vibratory urticaria and found that the cause of the disease is a mutation in the gene ADGRE2. This mutation was absent in the genomes of those who did not suffer from this disease.

The product of this gene is expressed on the surface of several types of immune cells, including mast cells. Normally, a protein composed of two subunits, which must be united to function. The mutation prevents the formation of a stable complex of two subunits. Disintegration triggers a complex cascade of reactions in the cell, which ultimately leads to the appearance of a rash and other allergic symptoms.

In the near future the authors plan to continue to study the genomes of patients with urticaria vibration to further explore the mechanism of the disease and ways to deal with this allergy.